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Emergencies cards for neuromuscular disorders 1st Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report.
Racca F, Sansone VA, Ricci F, Filosto M, Pedroni S, Mazzone E, Longhitano Y, Zanza C, Ardissone A, Adorisio R, Berardinelli A, Bondone C, Briani C, Cairello F, Carraro E, Comi GP, Crescimanno G, D'Amico A, Deiaco F, Fabiano A, Franceschi F, Mancuso M, Massè A, Messina S, Mongini T, Moroni I, Moscatelli A, Musumeci O, Navalesi P, Nigro G, Origo C, Panicucci C, Pane M, Pavone M, Pedemonte M, Pegoraro E, Piastra M, Pini A, Politano L, Previtali S, Rao F, Ricci G, Toscano A, Wolfler A, Zoccola K, Sancricca C, Nigro V, Trabacca A, Vianello A, Bruno C. Racca F, et al. Among authors: ardissone a. Acta Myol. 2022 Dec 31;41(4):135-177. doi: 10.36185/2532-1900-081. eCollection 2022. Acta Myol. 2022. PMID: 36793651 Free PMC article.
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
Burkardt DD, Zachariou A, Loveday C, Allen CL, Amor DJ, Ardissone A, Banka S, Bourgois A, Coubes C, Cytrynbaum C, Faivre L, Marion G, Horton R, Kotzot D, Lay-Son G, Lees M, Low K, Luk HM, Mark P, McConkie-Rosell A, McDonald M, Pappas J, Phillipe C, Shears D, Skotko B, Stewart F, Stewart H, Temple IK, Mau-Them FT, Verdugo RA, Weksberg R, Zarate YA, Graham JM, Tatton-Brown K. Burkardt DD, et al. Among authors: ardissone a. Am J Med Genet A. 2019 Oct;179(10):2049-2055. doi: 10.1002/ajmg.a.61321. Epub 2019 Aug 9. Am J Med Genet A. 2019. PMID: 31400068
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, Elliott A, Wylie H, Ardissone A, Rittinger O, Stewart F, Temple IK, Cole T; Childhood Overgrowth Collaboration; Mahamdallie S, Seal S, Ruark E, Rahman N. Tatton-Brown K, et al. Among authors: ardissone a. Am J Hum Genet. 2017 May 4;100(5):725-736. doi: 10.1016/j.ajhg.2017.03.010. Am J Hum Genet. 2017. PMID: 28475857 Free PMC article.
Mitochondrial Diseases in Childhood.
Ardissone A, Lamantea E, Invernizzi F, Zeviani M, Genitrini S, Moroni I, Uziel G. Ardissone A, et al. Curr Mol Med. 2014;14(8):1069-1078. doi: 10.2174/1566524014666141010155317. Curr Mol Med. 2014. PMID: 25323866
87 results